Literature DB >> 25451853

Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts.

Véronique Quenardelle1, Marc Bataillard, Dorothée Bazin, Béatrice Lannes, Valérie Wolff, Andoni Echaniz-Laguna.   

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Year:  2014        PMID： 25451853     DOI： 10.1007/s00415-014-7582-6

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

Review 1.  Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.

Authors:  Lisa D Hobson-Webb; Alan D Proia; Beth L Thurberg; Suhrad Banugaria; Sean N Prater; Priya S Kishnani
Journal:  Mol Genet Metab       Date:  2012-05-18       Impact factor: 4.797

Review 2.  Dilatative arteriopathy (dolichoectasia): What is known and not known.

Authors:  Louis R Caplan
Journal:  Ann Neurol       Date:  2005-04       Impact factor: 10.422

3.  A randomized study of alglucosidase alfa in late-onset Pompe's disease.

Authors:  Ans T van der Ploeg; Paula R Clemens; Deyanira Corzo; Diana M Escolar; Julaine Florence; Geert Jan Groeneveld; Serge Herson; Priya S Kishnani; Pascal Laforet; Stephen L Lake; Dale J Lange; Robert T Leshner; Jill E Mayhew; Claire Morgan; Kenkichi Nozaki; Dorothy J Park; Alan Pestronk; Barry Rosenbloom; Alison Skrinar; Carine I van Capelle; Nadine A van der Beek; Melissa Wasserstein; Sasa A Zivkovic
Journal:  N Engl J Med       Date:  2010-04-15       Impact factor: 91.245

4.  Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency.

Authors:  H A Kretzschmar; H Wagner; G Hübner; A Danek; T N Witt; P Mehraein
Journal:  J Neurol Sci       Date:  1990-09       Impact factor: 3.181

5.  Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

Authors:  J M H Anneser; D E Pongratz; T Podskarbi; Y S Shin; B G H Schoser
Journal:  Neurology       Date:  2005-01-25       Impact factor: 9.910

6.  Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

Authors:  Sabrina Sacconi; Jonathan D Bocquet; Stéphane Chanalet; Véronique Tanant; Leonardo Salviati; Claude Desnuelle
Journal:  J Neurol       Date:  2010-06-18       Impact factor: 4.849

7.  Toward deconstructing the phenotype of late-onset Pompe disease.

Authors:  Angela Schüller; Stephan Wenninger; Nicola Strigl-Pill; Benedikt Schoser
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-01-17       Impact factor: 3.908

8.  Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

Authors:  P Laforêt; P Petiot; M Nicolino; D Orlikowski; C Caillaud; N Pellegrini; R Froissart; T Petitjean; I Maire; H Chabriat; L Hadrane; D Annane; B Eymard
Journal:  Neurology       Date:  2008-05-27       Impact factor: 9.910

Review 9.  Pompe's disease.

Authors:  Ans T van der Ploeg; Arnold J J Reuser
Journal:  Lancet       Date:  2008-10-11       Impact factor: 79.321
  9 in total
  8 in total

1.  Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

Authors:  Loren D M Pena; Alan D Proia; Priya S Kishnani
Journal:  JIMD Rep       Date:  2015-03-13

Review 2.  Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.

Authors:  Antonio Toscano; Carmelo Rodolico; Olimpia Musumeci
Journal:  Ann Transl Med       Date:  2019-07

3.  Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.

Authors:  A Pichiecchio; S Sacco; P De Filippi; E Caverzasi; S Ravaglia; S Bastianello; C Danesino
Journal:  J Neurol       Date:  2017-08-30       Impact factor: 4.849

4.  Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.

Authors:  Manuela Corti; Cristina Liberati; Barbara K Smith; Lee Ann Lawson; Ibrahim S Tuna; Thomas J Conlon; Kirsten E Coleman; Saleem Islam; Roland W Herzog; David D Fuller; Shelley W Collins; Barry J Byrne
Journal:  Hum Gene Ther Clin Dev       Date:  2017-12       Impact factor: 5.032

5.  Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.

Authors:  Ole Hensel; Ilka Schneider; Mathias Wieprecht; Torsten Kraya; Stephan Zierz
Journal:  Orphanet J Rare Dis       Date:  2018-04-13       Impact factor: 4.123

6.  Renal artery fibromuscular dysplasia in Pompe disease: A case report.

Authors:  Evangelia Pappa; Constantinos Papadopoulos; Philippe Grimbert; Pascal Laforêt; Guillaume Bassez
Journal:  Mol Genet Metab Rep       Date:  2018-07-26

7.  GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.

Authors:  Xiaodong Jia; Libin Shao; Chengcheng Liu; Tuanzhi Chen; Ling Peng; Yinguang Cao; Chuanchen Zhang; Xiafeng Yang; Guifeng Zhang; Jianlu Gao; Guangyi Fan; Mingliang Gu; Hongli Du; Zhangyong Xia
Journal:  Aging (Albany NY)       Date:  2020-03-03       Impact factor: 5.682

8.  Glycogen accumulation in smooth muscle of a Pompe disease mouse model.

Authors:  Angela L McCall; Justin S Dhindsa; Aidan M Bailey; Logan A Pucci; Laura M Strickland; Mai K ElMallah
Journal:  J Smooth Muscle Res       Date:  2021
  8 in total

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